Cyril Goizet

Professeur PU-PH

University of Bordeaux

France

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Professor Cyril Goizet is a faculty member at Université de Bordeaux, France. His research focuses on neurodevelopmental disorders, genetic diseases, and hereditary conditions, as highlighted in his recent publications. Noteworthy studies include the implications of genetic variants in Huntington's disease, hereditary spastic paraplegia, and neurodevelopmental syndromes. His work contributes significantly to understanding the clinical and genetic landscapes of these conditions.

Articles (10)

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2022

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2022

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2022

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2022

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2022

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2022

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2022

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2021

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2021

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2021

Collaborators (10)

Vincent Huin

Associate professor

Université de Lille

FRANCE

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Manuela Basso

Assistant professor

ITALY

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Giovanni Stevanin

Directeur d'Etudes Cumulant (Professor)

École Pratique des Hautes Études

FRANCE

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Alexandra Durr

Professor, MD, PhD,

Sorbonne Université

FRANCE

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Laure Cayrefourcq

Assistant professor

University Hospital of Montpellier

FRANCE

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Annick Toutain

FRANCE

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Dewi Schrader

Clinical Assistant Professor, Paediatric Neurologist

CANADA

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Giorgio CASARI

Professor and Group Leader

Vita-Salute San Raffaele University

ITALY

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Anne-Catherine Bachoud-Lévi

Head of the neurology departement, professor

Université Paris-Saclay

FRANCE

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Frederic Darios

Institut du Cerveau et de la Moelle Épinière

FRANCE

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Cyril Goizet

Research Interests

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Articles (10)

The burden of Huntington's disease: A prospective longitudinal study of patient/caregiver pairs

Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia.

KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism

Noninvasive prenatal diagnosis of genetic diseases induced by triplet repeat expansion by linked read haplotyping and Bayesian approach.

From Negative to Positive Diagnosis: Structural Variation Could Be the Second Mutation You Are Looking for in a Recessive Autosomal Gene.

Whole-exome sequencing confirms implication of VPS13D as a potential cause of progressive spastic ataxia.

Safety and efficacy of riluzole in spinocerebellar ataxia type 2 in France (ATRIL): a multicentre, randomised, double-blind, placebo-controlled trial.

Cardiovascular and connective tissue disorder features in FLNA-related PVNH patients: progress towards a refined delineation of this syndrome

Correction: Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment

Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy.

Collaborators (10)

Vincent Huin

Manuela Basso

Giovanni Stevanin

Alexandra Durr

Laure Cayrefourcq

Annick Toutain

Dewi Schrader

Giorgio CASARI

Anne-Catherine Bachoud-Lévi

Frederic Darios

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